Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results

Abstract Background Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when using it later in the diagnostic pathway. However,...

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Bibliographic Details
Main Authors:	Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Format:	Article
Language:	English
Published:	BMC 2020-01-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Whole exome sequencing Inherited retinal diseases Fundoscopy Gene therapy Whole genome sequencing
Online Access:	https://doi.org/10.1186/s13023-020-1312-1

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